المؤلفون: Rosenhahn, E, O'Brien, TJ, Zaki, MS, Sorge, I, Wieczorek, D, Rostasy, K, Vitobello, A, Nambot, S, Alkuraya, FS, Hashem, MO, Alhashem, A, Tabarki, B, Alamri, AS, Al Safar, AH, Bubshait, DK, Alahmady, NF, Gleeson, JG, Abdel-Hamid, MS, Lesko, N, Ygberg, S, Correia, SP, Wredenberg, A, Alavi, S, Seyedhassani, SM, Nasab, ME, Hussien, H, Omar, TEI, Harzallah, I, Touraine, R, Tajsharghi, H, Morsy, H, Houlden, H, Shahrooei, M, Ghavideldarestani, M, Abdel-Salam, GMH, Torella, A, Zanobio, M, Terrone, G, Brunetti-Pierri, N, Omrani, A, Hentschel, J, Lemke, JR, Sticht, H, Abou Jamra, R, Brown, AEX, Maroofian, R, Platzer, K

المصدر: American journal of human genetics. 109(8):1421-1435

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:150656596

المؤلفون: Barlow, IL, Feriani, L, Minga, E, McDermott-Rouse, A, O'Brien, TJ, Liu, ZW, Hofbauer, M, Stowers, JR, Andersen, EC, Ding, SS, Brown, AEX

المصدر: Communications biology. 5(1):253

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:149160786

المؤلفون: Siyu Serena Ding, Brown Aex, Karen S. Sarkisyan

مصطلحات موضوعية: 0303 health sciences, Foraging, Swarming (honey bee), Zoology, Bioluminescent bacteria, Biology, biology.organism_classification, medicine.disease_cause, 03 medical and health sciences, 0302 clinical medicine, medicine, Ingestion, Bioluminescence, Light emission, Escherichia coli, 030217 neurology & neurosurgery, Bacteria, 030304 developmental biology

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e639784aaa3118fa93c4b099dc712d

المؤلفون: Renée I. Seinstra, Baskaner B, Patrick Laurent, Nollen Eaa, William R Schafer, Brown Aex, Celine N. Martineau

مصطلحات موضوعية: Human studies, Ageing, Evolutionary biology, Flexibility (personality), Biology, Early onset, Behavioural phenotyping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2369c71c9172b2c358d42aba5a0118c
https://doi.org/10.1101/555847

المؤلفون: Brown, AEX, De Bivort, B

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::07ae81e3dc33918a6c2186cbf2f35104
http://hdl.handle.net/10044/1/63267

المؤلفون: Schumacher, LJ, Ding, S, Brown, AEX, Endres, RG

المساهمون: Biotechnology and Biological Sciences Research Council (BBSRC)

المصدر: 19th IUPAB Congress / 11th EBSA Congress
S74

مصطلحات موضوعية: Science & Technology, 0299 Other Physical Sciences, Biophysics, Life Sciences & Biomedicine

URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______1032::2a9b0c6a8952483d0ed207ffedca897f
http://hdl.handle.net/10044/1/68780

المؤلفون: Maroofian R; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Sarraf P; Department of Neuromuscular Diseases, Iranian Centre of Neurological Research, Neuroscience Institute, Tehran University of Medical Sciences, Tehran 1416753955, Iran.; Department of Neurology, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran 1416753955, Iran., O'Brien TJ; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK., Kamel M; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt., Cakar A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Neuromuscular Unit, Istanbul Faculty of Medicine, Istanbul University, Istanbul 34093, Turkey., Elkhateeb N; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge CB2 0QQ, UK., Lau T; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Patil SJ; Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital, Bangalore 560099, India., Record CJ; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Horga A; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Essid M; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Selim L; Department of Pediatrics, Neurology and Metabolic Division, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 4240310, Egypt., Benrhouma H; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Ben Younes T; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Zifarelli G; CENTOGENE GmbH, Rostock 18055, Germany., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK., Bauer P; CENTOGENE GmbH, Rostock 18055, Germany., Khundadze M; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany., Mirecki A; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany., Kamel SM; Department of Radiology, Cairo University, Cairo 12613, Egypt., Elmonem MA; Department of Clinical and Chemical Pathology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo 12613, Egypt., Ghayoor Karimiani E; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK.; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad 9187147578, Iran., Jamshidi Y; Molecular and Clinical Sciences Institute, St. George's, University of London, London SW17 0RE, UK., Offiah AC; Division of Clinical Medicine, School of Medicine & Population Health, University of Sheffield, Sheffield S10 2RX, UK., Rossor AM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Youssef-Turki IB; LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, University of Tunis El Manar, Tunis, 1007, Tunisia., Hübner CA; Institute of Human Genetics, Jena University Hospital, Friedrich Schiller University, Jena 07747, Germany.; Center for Rare Diseases, Jena University Hospital, Friedrich Schiller Universität, Jena 07747, Germany., Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital NHS Trust, London WC1N 3JH, UK., Reilly MM; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK., Brown AEX; Institute of Clinical Sciences, Imperial College London, London SW7 2AZ, UK.; MRC Laboratory of Medical Sciences, London W12 0HS, UK., Nagy S; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Department of Neurology, University Hospital Basel, University of Basel, Basel 4031, Switzerland., Houlden H; Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.

المصدر: Brain : a journal of neurology [Brain] 2024 Jul 05; Vol. 147 (7), pp. 2334-2343.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

مواضيع طبية MeSH: Pedigree*, Humans ; Male ; Female ; Child ; Adult ; Adolescent ; Young Adult ; Middle Aged ; Animals ; Lower Extremity/physiopathology ; Caenorhabditis elegans ; Muscle Spasticity/genetics ; Muscle Spasticity/physiopathology ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/physiopathology ; Mutation

المؤلفون: Koopman M; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Güngördü L; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Janssen L; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Seinstra RI; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Richmond JE; Department of Biological Sciences, University of Illinois at Chicago, Chicago, IL 60607, USA., Okerlund N; Howard Hughes Medical Institute and School of Biological Science, The University of Utah, Salt Lake City, UT, USA., Wardenaar R; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Islam P; MRC London Institute of Medical Sciences, London, UK; Institute of Clinical Sciences, Imperial College London, London, UK., Hogewerf W; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Brown AEX; MRC London Institute of Medical Sciences, London, UK; Institute of Clinical Sciences, Imperial College London, London, UK., Jorgensen EM; Howard Hughes Medical Institute and School of Biological Science, The University of Utah, Salt Lake City, UT, USA., Nollen EAA; European Research Institute for the Biology of Ageing, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands. Electronic address: e.a.a.nollen@umcg.nl.

المصدر: Cell reports [Cell Rep] 2024 May 28; Vol. 43 (5), pp. 114204. Date of Electronic Publication: 2024 May 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

مواضيع طبية MeSH: Caenorhabditis elegans*/metabolism , DNA-Binding Proteins*/metabolism , DNA-Binding Proteins*/genetics , Disease Models, Animal*, Animals ; GABAergic Neurons/metabolism ; Caenorhabditis elegans Proteins/metabolism ; Caenorhabditis elegans Proteins/genetics ; Motor Neurons/metabolism ; Locomotion ; Synaptic Transmission ; Movement ; Cholinergic Neurons/metabolism

المؤلفون: Catalano F; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., O'Brien TJ; Behavioural Phenomics Research Group, MRC London Institute of Medical Sciences, London, UK.; Institute of Clinical Sciences, Imperial College London, London, UK., Mekhova AA; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia., Sepe LV; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Elia M; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., De Cegli R; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Gallotta I; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute of Genetics and Biophysics Adriano Buzzati-Traverso (IGB-ABT), National Research Council (CNR), Napoli, Italy., Santonicola P; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., Zampi G; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., Ilyechova EY; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia.; Department of Molecular Genetics, Research Institute of Experimental Medicine, St. Petersburg, Russia., Romanov AA; Department of Applied Mathematics, Institute of Applied Mathematics and Mechanics, Peter the Great Polytechnic University, St. Petersburg, Russia., Samuseva PD; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia., Salzano J; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Petruzzelli R; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Scuola Superiore Meridionale, School of Advanced Studies, Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy., Polishchuk EV; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy., Indrieri A; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute for Genetic and Biomedical Research, National Research Council (CNR), Milan, Italy., Kim BE; Department of Animal and Avian Sciences, University of Maryland, College Park, Maryland, USA., Brown AEX; Behavioural Phenomics Research Group, MRC London Institute of Medical Sciences, London, UK.; Institute of Clinical Sciences, Imperial College London, London, UK., Puchkova LV; Research Center of Advanced Functional Materials and Laser Communication Systems, ADTS Institute, ITMO University, St. Petersburg, Russia., Di Schiavi E; Institute of Biosciences and BioResources, National Research Council (CNR), Napoli, Italy.; Institute of Genetics and Biophysics Adriano Buzzati-Traverso (IGB-ABT), National Research Council (CNR), Napoli, Italy., Polishchuk RS; Cell Biology and Disease Mechanisms Program, Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Institute for Genetic and Biomedical Research, National Research Council (CNR), Milan, Italy.

المصدر: Traffic (Copenhagen, Denmark) [Traffic] 2024 Jan; Vol. 25 (1), pp. e12920. Date of Electronic Publication: 2023 Oct 27.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: England NLM ID: 100939340 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1600-0854 (Electronic) Linking ISSN: 13989219 NLM ISO Abbreviation: Traffic Subsets: MEDLINE

مواضيع طبية MeSH: Hepatolenticular Degeneration*/genetics , Hepatolenticular Degeneration*/drug therapy , Hepatolenticular Degeneration*/metabolism, Animals ; Humans ; Copper/toxicity ; Copper/metabolism ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Copper-Transporting ATPases/genetics ; Copper-Transporting ATPases/metabolism ; Hepatocytes/metabolism

المؤلفون: Saida K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Sengoku T; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Pagnamenta AT; NIHR Oxford Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford, United Kingdom., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., O'Brien TJ; MRC London Institute of Medical Sciences, London, United Kingdom; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London, United Kingdom., Karimiani EG; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Kaiyrzhanov R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Takizawa M; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Ohori S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Leong HY; Genetics Department, Hospital Kuala Lumpur, Kuala Lumpur, Malaysia., Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Galehdari H; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Zamani M; Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran., Romy R; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Carroll CJ; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, United Kingdom., Toosi MB; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Malek H; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Tomoum H; Department of Pediatrics, Ain Shams University, Cairo, Egypt., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Dominik N; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Elbendary HM; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Rafat K; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Yilmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Kanmaz S; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Serin M; Division of Pediatric Neurology, Department of Pediatrics, Ege University Faculty of Medicine, Izmir, Turkey., Krishnakumar D; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom., Gardham A; North West Thames Regional Genetics Service, Northwick Park Hospital, London, United Kingdom., Maw A; Department of Paediatric Neurology, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom., Rao TS; Department of Paediatrics, Luton and Dunstable University Hospital, Luton, United Kingdom., Alsubhi S; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada., Srour M; Division of Pediatric Neurology, Departments of Pediatrics, McGill University, Montreal, Quebec, Canada; Research Institute of the McGill University Health Center (MUHC), Montreal, Quebec, Canada., Buhas D; Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Center (MUHC), Montreal, Quebec, Canada; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Jewett T; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC., Goldberg RE; Department of Pediatrics, Section on Medical Genetics, Wake Forest University School of Medicine, Winston-Salem, NC., Shamseldin H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Frengen E; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Misceo D; Department of Medical Genetics, Oslo University Hospital and University of Oslo, Oslo, Norway., Strømme P; Division of Pediatric and Adolescent Medicine, Oslo University Hospital and University of Oslo, Oslo, Norway., Magliocco Ceroni JR; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Kim CA; Genetic Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, Brazil., Yesil G; Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Sengenc E; Department of Pediatric Neurology, Faculty of Medicine, Bezmialem Vakif University, Istanbul, Turkey., Guler S; Department of Child Neurology, Cerrahpasa Medical Faculty, Istanbul University, Istanbul, Turkey., Hull M; Texas Children's Hospital, Houston, TX., Parnes M; Texas Children's Hospital, Houston, TX., Aktas D; Damagen Genetic Diagnostic Center, Ankara, Turkey., Anlar B; Department of Pediatric Neurology, Hacettepe University Faculty of Medicine, Ankara, Turkey., Bayram Y; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Division of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Alavi S; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Madani Manshadi SA; Meybod Genetic Research Center, Meybod, Yazd, Iran., Alzaidan H; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Alabdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia., Abdulwahab F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Sekiguchi F; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan., Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Japan., Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan., Elshafie RM; Kuwait Medical Genetic Centre, Ministry of Health, Kuwait., Salayev K; Department of Neurology, Azerbaijan Medical University, Baku, Azerbaijan., Guliyeva U; MediClub Hospital, Baku, Azerbaijan., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Gleeson JG; Department of Neurosciences, University of California San Diego, San Diego, CA; Rady Children's Institute for Genomic Medicine, San Diego, CA., Monaghan KG; GeneDx, Gaithersburg, MD., Langley KG; GeneDx, Gaithersburg, MD., Yang H; GeneDx, Gaithersburg, MD., Motavaf M; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Safari S; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Alipour M; Functional Neurosurgery Research Center, Shohada Tajrish Comprehensive Neurosurgical Center of Excellence, Shahid Beheshti University of Medical Sciences, Tehran, Iran; Department of Biophysics, Faculty of Biological Sciences, Tarbiat Modares University, Tehran, Iran., Ogata K; Department of Biochemistry, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Brown AEX; MRC London Institute of Medical Sciences, London, United Kingdom; Faculty of Medicine, Institute of Clinical Sciences, Imperial College London, London, United Kingdom., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX; Department of Pediatrics, Baylor College of Medicine, Houston, TX., Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London, United Kingdom., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. Electronic address: naomat@yokohama-cu.ac.jp.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 90-102. Date of Electronic Publication: 2022 Oct 31.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Brain Diseases* , Movement Disorders*/genetics , Dystonia*, Humans ; Animals ; Rats ; Caenorhabditis elegans/genetics ; Caenorhabditis elegans/metabolism ; Vesicular Monoamine Transport Proteins/genetics ; Vesicular Monoamine Transport Proteins/metabolism ; Amines ; Brain/metabolism